Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances

S Kjaergaard; K Sundberg; F S Jørgensen; M D Rohde; A M Lind; T Gerdes; A Tabor; M Kirchhoff

doi:10.1002/pd.2604

Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances

S Kjaergaard, K Sundberg, F S Jørgensen, M D Rohde, A M Lind, T Gerdes, A Tabor, M Kirchhoff

21 Citations (Scopus)

Abstract

The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) for detection of selected microdeletion syndromes (22q11, Prader-Willi/Angelman, Miller-Dieker, Smith-Magenis, 1p-, Williams), the reciprocal microduplication syndromes and imbalance at the subtelomere regions of chromosomes in a routine prenatal setting.

Original language	English
Journal	Prenatal Diagnosis
Volume	30
Issue number	10
Pages (from-to)	995-9
Number of pages	5
ISSN	0197-3851
DOIs	https://doi.org/10.1002/pd.2604
Publication status	Published - 1 Oct 2010

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abstract = "The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) for detection of selected microdeletion syndromes (22q11, Prader-Willi/Angelman, Miller-Dieker, Smith-Magenis, 1p-, Williams), the reciprocal microduplication syndromes and imbalance at the subtelomere regions of chromosomes in a routine prenatal setting.",

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AU - Kjaergaard, S

AU - Sundberg, K

AU - Jørgensen, F S

AU - Rohde, M D

AU - Lind, A M

AU - Gerdes, T

AU - Tabor, A

AU - Kirchhoff, M

PY - 2010/10/1

Y1 - 2010/10/1

N2 - The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) for detection of selected microdeletion syndromes (22q11, Prader-Willi/Angelman, Miller-Dieker, Smith-Magenis, 1p-, Williams), the reciprocal microduplication syndromes and imbalance at the subtelomere regions of chromosomes in a routine prenatal setting.

AB - The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) for detection of selected microdeletion syndromes (22q11, Prader-Willi/Angelman, Miller-Dieker, Smith-Magenis, 1p-, Williams), the reciprocal microduplication syndromes and imbalance at the subtelomere regions of chromosomes in a routine prenatal setting.

UR - https://www.scopus.com/pages/publications/77957366038

U2 - 10.1002/pd.2604

DO - 10.1002/pd.2604

M3 - Journal article

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SN - 0197-3851

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JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

IS - 10

ER -

Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances

Abstract

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